The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of
SON mutation
ZTTK syndrome
brain malformations
chronic liver disease
developmental delay
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
17 03 2023
17 03 2023
Historique:
received:
12
02
2023
revised:
08
03
2023
accepted:
13
03
2023
medline:
30
3
2023
entrez:
29
3
2023
pubmed:
30
3
2023
Statut:
epublish
Résumé
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in
Identifiants
pubmed: 36981010
pii: genes14030739
doi: 10.3390/genes14030739
pmc: PMC10048019
pii:
doi:
Types de publication
Review
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Références
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